Variant Results

or

Results for "ADGRL4"

Variant Events: 104

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ADGRL4

13609.p1

chr1:
80384890-80384890

G

C

intergenic

De novo

-

Werling2018 G

ADGRL4

1-0075-003

chr1:
80133102-80133102

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU2293302

chr1:
80983544-80983544

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

08C74533

chr1:
79470765-79470765

T

G

exonic

De novo

synonymous SNV

NM_022159

c.A162C

p.T54T

-

Fu2022 E

ADGRL4

AU3760302

chr1:
79411969-79411969

G

A

exonic

De novo

synonymous SNV

NM_022159

c.C315T

p.T105T

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ADGRL4

AU071204

chr1:
80101485-80101485

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0571-003

chr1:
80791089-80791089

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0382-003

chr1:
79656844-79656844

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

5-0084-003

chr1:
80271177-80271177

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

200675742_1082034788

chr1:
79403681-79403682

GA

G

intronic

De novo

-

Fu2022 E

ADGRL4

1-0636-003

chr1:
80214653-80214667

CGTGTGTGTGTGTGT

CGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-0043-003

chr1:
80765488-80765488

G

A

intergenic

De novo

-

Yuen2016 G

ADGRL4

2-1477-003

chr1:
80271725-80271725

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL4

1-0652-004

chr1:
80293282-80293282

A

AT

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1562-004

chr1:
80340818-80340818

A

AACT

intergenic

De novo

-

Yuen2017 G

ADGRL4

5-0105-003

chr1:
80741805-80741805

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0443-003

chr1:
79409345-79409345

C

T

intronic

De novo

-

Yuen2016 G

ADGRL4

2-1620-003

chr1:
80962679-80962679

T

TATC

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU3371302

chr1:
79477138-79477138

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU079104

chr1:
80841796-80841796

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU4284301

chr1:
80499736-80499736

G

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU0039303

chr1:
80026670-80026670

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU0780302

chr1:
80150044-80150044

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1094-004

chr1:
80073281-80073281

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU4223302

chr1:
80824725-80824725

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

74-0450

chr1:
79357261-79357261

T

C

exonic

Inherited

nonsynonymous SNV

NM_022159

c.A1958G

p.N653S

23.4

2.501E-5

Patowary2019 E

ADGRL4

AU3122301

chr1:
80993014-80993014

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1353-003

chr1:
80831261-80831261

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL4

A27

chr1:
80720909-80720909

T

C

intergenic

De novo

-

Wu2018 G

ADGRL4

14522.p1

chr1:
79367812-79367812

A

G

intronic

De novo

-

Werling2018 G

ADGRL4

5-0055-004

chr1:
80930189-80930190

AT

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1164-003

chr1:
79572367-79572367

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL4

1-0045-004

chr1:
80982767-80982767

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1277-004

chr1:
80570219-80570219

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

A2

chr1:
79932604-79932604

A

G

intergenic

De novo

-

Wu2018 G

ADGRL4

1-0552-003

chr1:
79766025-79766025

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0445-003

chr1:
79583430-79583430

A

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU006804

chr1:
80845694-80845694

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

5-0148-003

chr1:
80796165-80796165

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

7-0102-003

chr1:
80945007-80945007

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

3-0111-000

chr1:
80516697-80516697

C

T

intergenic

De novo

-

Yuen2016 G

ADGRL4

AU3859301

chr1:
80631825-80631825

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

7-0249-003

chr1:
79356974-79356974

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRL4

13638.p1

chr1:
79392543-79392543

G

T

intronic

Mosaic

-

Dou2017 E

ADGRL4

1-0373-003

chr1:
79870122-79870122

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-0102-004

chr1:
80661339-80661339

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0169-003

chr1:
80129944-80129944

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0300-003

chr1:
80395960-80395960

G

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1561-003

chr1:
80004072-80004072

T

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU3874301

chr1:
80247478-80247478

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1160-003

chr1:
80941447-80941447

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRL4

1-0173-004

chr1:
80215470-80215470

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU4273304

chr1:
79869237-79869237

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

7-0058-003

chr1:
79650274-79650274

A

AAAC

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0285-004

chr1:
80927536-80927536

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1736-003

chr1:
79905445-79905445

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU4032307

chr1:
80838288-80838288

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU056604

chr1:
79978298-79978298

A

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0570-003

chr1:
79426977-79426977

G

A

intronic

De novo

-

Yuen2017 G

ADGRL4

2-0003-003

chr1:
79473990-79473990

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

5-0061-003

chr1:
80853290-80853290

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0303-004

chr1:
80551102-80551102

T

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1508-004

chr1:
79669423-79669423

G

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0606-003

chr1:
79695109-79695124

CTATTATTATTATTAT

CTATTATTATTAT

intergenic

De novo

-

Yuen2017 G

ADGRL4

14370.p1

chr1:
79386595-79386595

C

T

intronic

De novo

-

Turner2016 G

ADGRL4

1-0073-003

chr1:
79815288-79815288

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

14496.p1

chr1:
79620003-79620003

T

A

intergenic

De novo

-

Turner2016 G

ADGRL4

1-0197-004

chr1:
80898399-80898399

C

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-0063-003

chr1:
80909843-80909843

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

14153.p1

chr1:
80326263-80326263

G

A

intergenic

De novo

-

Turner2016 G

ADGRL4

11456.p1

chr1:
80454899-80454899

T

C

intergenic

De novo

-

Turner2016 G

ADGRL4

AU3858302

chr1:
80384650-80384650

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0455-003

chr1:
79640082-79640082

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0985-003

chr1:
80037952-80037960

CATATATAT

CATATAT

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU3051303

chr1:
79860775-79860775

G

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1252-003

chr1:
79443912-79443912

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRL4

AU3051303

chr1:
79632094-79632094

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

MSSNG00344-004

chr1:
79382951-79382951

G

A

intronic

De novo

-

Trost2022 G

ADGRL4

AU3874302

chr1:
80429890-80429890

T

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1562-003

chr1:
80340818-80340818

A

AACT

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0253-004

chr1:
79538191-79538191

T

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-1134-004

chr1:
79423517-79423517

T

C

intronic

De novo

-

Trost2022 G

ADGRL4

AU4211304

chr1:
80583120-80583120

A

C

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0722-003

chr1:
79421659-79421659

G

A

intronic

De novo

-

Trost2022 G

ADGRL4

MSSNG00043-004A

chr1:
79385174-79385174

C

G

intronic

De novo

-

Trost2022 G

ADGRL4

MT_19.3

chr1:
79384382-79384382

C

G

intronic

De novo

-

Trost2022 G

ADGRL4

MSSNG00023-003

chr1:
79407262-79407262

G

A

intronic

De novo

-

Trost2022 G

ADGRL4

5-5016-003

chr1:
79393997-79393997

T

C

intronic

De novo

-

Trost2022 G

ADGRL4

2-1295-003

chr1:
80789525-80789539

CGTGTGTGTGTGTGT

CGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1526-003

chr1:
79729528-79729528

T

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

7-0100-004

chr1:
79922209-79922209

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

7-0100-004

chr1:
80527254-80527254

A

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-0285-004

chr1:
80735524-80735524

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

5-0050-004

chr1:
79402823-79402823

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADGRL4

7-0151-003

chr1:
79571743-79571743

A

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

NDAR_INVCG000TG1_wes1

chr1:
79474686-79474686

A

T

intergenic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ADGRL4

1-0150-004

chr1:
80287625-80287625

C

T

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-0129-004

chr1:
79739475-79739475

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

AU4473301

chr1:
80505349-80505349

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1370-003

chr1:
80592867-80592867

A

G

intergenic

De novo

-

Yuen2016 G

ADGRL4

1-0208-003

chr1:
80945270-80945270

G

A

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1461-003

chr1:
80875278-80875278

C

G

intergenic

De novo

-

Yuen2017 G

ADGRL4

2-1411-003

chr1:
80423189-80423203

GTATATATATATATA

GTATATATATATA

intergenic

De novo

-

Yuen2017 G

ADGRL4

1-0352-005

chr1:
80593444-80593444

G

A

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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